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Article

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

PloS one - 1 Jan 2013

Beck Tyler F, Shchelochkov Oleg A, Yu Zhiyin, Kim Bum Jun, Hernández-García Andrés, Zaveri Hitisha P, Bishop Colin, Overbeek Paul A, Stockton David W, Justice Monica J, Scott Daryl A

Abstract excerpt

The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malforma...

Read the complete abstract on PubMed

Topics

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Share to Abnormalities, Multiple
Share to Congenital Abnormalities
Share to Epistasis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to GATA4 Transcription Factor

Share to Haploinsufficiency

Share to Kidney Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 23536828
DOI: 10.1371/journal.pone.0058830
PMCID: PMC3594180

Genes

FREM1
GATA4
SLIT3
FRAS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23536828-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.PMID 23536828Read ↗

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